AARS2 Antibody

1. Two AARS2 variants, (c.2872C > T) and (c.1774C > T), were identified in a child with cardiomyopathy with early-onset brain disease. PMID: 29440775
2. Three patients with ovarioleukodystrophy, carrying AARS2 compound heterozygous mutations have been found. PMID: 29749055
3. Missense variants in the AARS2 gene are the likely cause of the retinopathy and optic atrophy in this patient. This finding expands the phenotypic spectrum of the AARS2 gene. PMID: 28820624
4. Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. PMID: 27749956
5. This paper documented a new, nonsense AARS2 gene mutation (c.578T>G, p.Leu193*) and a known missense mutation (c.595C>T, p.Arg199Cys) associated with leukoencephalopathy in a male patient. PMID: 27734837
6. we describe a Japanese woman with novel compound heterozygous mutations in AARS2, the first report of leukodystrophy caused by AARS2 mutations in Asia. PMID: 27251004
7. A new phenotype caused by AARS2 mutations is characterized by leukoencephalopathy and ovarian failure in female patients, indicating that the phenotypic spectrum associated with AARS2 variants is much wider than previously reported. PMID: 24808023
8. Mutations in AARS2 found in lethal mitochondrial myopathy PMID: 22277967

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HGNC: 21022

OMIM: 612035

KEGG: hsa:57505

STRING: 9606.ENSP00000244571

UniGene: Hs.158381